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Gene | FLT3 |
Variant | N676K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 N676K lies within the protein kinase domain of the Flt3 protein (UniProt.org). N676K results in constitutive phosphorylation of Flt3, activation of Akt and Mapk signaling, leading to malignant hematological transformation in animal models (PMID: 26891877), and has been demonstrated to occur as a resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 16150941). |
Associated Drug Resistance | Y |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 N676K FLT3 mutant FLT3 exon16 FLT3 N676K |
Transcript | NM_004119.2 |
gDNA | chr13:g.28028203G>C |
cDNA | c.2028C>G |
Protein | p.N676K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28028203G>C | c.2028C>G | p.N676K | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28028203G>C | c.2028C>G | p.N676K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FLT3 N676K | hematologic cancer | sensitive | Gilteritinib | Preclinical - Cell culture | Actionable | In a preclinical study, Xospata (gilteritinib) resulted in reduced cell viability in transformed cells expressing FLT3 N676K in culture (PMID: 32040554). | 32040554 |